Phenotype #0000355465

Individual ID 00470316
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite MRD21
Phenotype details see paper; ..., birth 40w; mild feeding difficulties neonatal period; muscular hypotonia; develomental delay, intellectual disability; autistic behavior, attention-deficit/hyperactivity disorder; strabismus; no urogenital anomalies; flat face, prognathism, downslanting shoulders, thin upper lip, short philtrum, upslanting palpebral fissures, broad nose; no congenital heart disease; minor cleft palate, recurrent otitis media, constipation. fine and thin habitus.
Inheritance Isolated (sporadic)
Age/Examination 9y (9 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-11-30 13:31:50 +01:00 (CET)
Date last edited N/A

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